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Prenatal screening and diagnosis of aneuploidy - isuog

Prenatal screening and diagnosis of aneuploidy - isuog

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Pre-Congress course:<br />

<strong>Prenatal</strong> <strong>screening</strong> <strong>and</strong><br />

<strong>diagnosis</strong> <strong>of</strong> <strong>aneuploidy</strong><br />

23rd World Congress on Ultrasound<br />

in Obstetrics <strong>and</strong> Gynecology<br />

6 – 9 October 2013, Sydney, Australia<br />

Incorporating the ASUM 43rd Annual Scientific Meeting<br />

In partnership with:<br />

Course directors:<br />

Jon Hyett (Australia)<br />

Jan Van Lith (The Netherl<strong>and</strong>s)<br />

Register<br />

NOW<br />

Date & location:<br />

5 October 2013, Sydney, Australia<br />

Fees:<br />

Day delegate fee from $260
AUD<br />

(includes lunch & refreshments)<br />

CME available<br />

Registration & contact:<br />

Register online at<br />

www.<strong>isuog</strong>.org/worldcongress2013<br />

E: congress@<strong>isuog</strong>.org T: +44 (0)20 7471 9955


This course will review the status <strong>of</strong> ultrasound <strong>and</strong> <strong>screening</strong> for Down syndrome,<br />

describe the advantages <strong>and</strong> limitations <strong>of</strong> novel molecular tools for prenatal<br />

<strong>screening</strong> <strong>and</strong> <strong>diagnosis</strong>, define indications for these tools – based on current<br />

ultrasound <strong>screening</strong> protocols <strong>and</strong> finally describe ways in which ultrasound<br />

<strong>screening</strong> can adapt to the changing environment <strong>of</strong> molecular based testing.<br />

08:30 Population based <strong>screening</strong> for Down syndrome in Denmark<br />

An overview <strong>of</strong> the process <strong>and</strong> effectiveness <strong>of</strong> <strong>screening</strong><br />

08:50 Population based <strong>screening</strong> for Down syndrome in New Zeal<strong>and</strong><br />

An overview <strong>of</strong> the process <strong>and</strong> effectiveness <strong>of</strong> <strong>screening</strong><br />

09:10 Resetting the st<strong>and</strong>ards <strong>of</strong> <strong>screening</strong><br />

Changing risk cut-<strong>of</strong>fs to improve <strong>screening</strong> performance<br />

09:30 Effective intervention for managing NT underperformers<br />

10:00 C<strong>of</strong>fee<br />

Molecular genetics: How the tests work<br />

10:30 Examining DNA <strong>and</strong> RNA by arrays: techniques, technologies applications<br />

<strong>and</strong> limitations<br />

10:45 Sequencing: techniques, technologies, applications <strong>and</strong> limitations<br />

11:00 The importance <strong>of</strong> bioinformatics: effects on clinical <strong>diagnosis</strong> <strong>and</strong> false<br />

positive rates<br />

Can’t see the wood for the trees: prenatal karyotyping by array CGH<br />

11:15 Targeted molecular tools for prenatal <strong>diagnosis</strong><br />

11:35 Defining high risk groups that should be <strong>of</strong>fered array CGH<br />

11:55 Using array CGH for ‘routine’ fetal karyotyping<br />

12:30 Lunch<br />

Forget the trees, concentrate on the wood: non-invasive prenatal testing<br />

13:30 Non-invasive testing: a summary <strong>of</strong> test efficiency<br />

14:00 Non-invasive prenatal testing: clinical experience<br />

14:20 Limited karyotyping: what we will miss<br />

14:40 NIPT, first trimester ultrasound or both?<br />

15:10 C<strong>of</strong>fee<br />

Adjusting to the new clinical paradigm<br />

15:40 Improving the <strong>screening</strong> efficiency <strong>of</strong> the first trimester scan<br />

16:00 Screening for adverse pregnancy outcomes at 12 weeks<br />

16:40 Diagnosing cardiac defects at 12 weeks: tips <strong>and</strong> tricks for the sonographer<br />

17:00 Back to markers: non-invasive testing or arrays after a positive 20 week<br />

anomaly scan?<br />

17:20 Close

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